Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies.

Abstract excerpt

OBJECTIVE: Although previous research shows that generalized and focal epilepsies have at least some distinct genetic influences, it remains uncertain why some families manifest both types of epilepsy. We tested two hypotheses: (1) families with both generalized and focal epilepsy carry separate risk alleles for both types; and (2) within mixed families, the type of epilepsy each individual manifests is...

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